neuromuscular disorders encompass a broad spectrum of disorders from the anterior horn cell to the muscle tissue itself. the given condition can be either genetic or acquired. these group of disorders are diagnostically challenging as many of them also pose other systemic findings. one example would the commonly seen mental retardation in duchenne muscular dystrophy. from the practical point of...

Hearing impairment is common in patients with mitochondrial disorders, affecting over half of all cases at some time in the course of the disease. In some patients, deafness is only part of a multisystem disorder. By contrast, there are also a number of "pure" mitochondrial deafness disorders, the most common probably being maternally inherited. We retrospectively analyzed the last 60 genetical...

Objectives: Mitochondrial disorders (MIDs) are usually multisystem diseases and may manifest in addition to other systems also in the vasculature. Method: Literature review by using appropriate key words. Results: Vasculopathy in MIDs particularly manifests in arteries in form of a macroor microangiopathy. Direct evidence for microangiopathy in MIDs derives from the following findings: histolog...

Mitochondrial diseases are a group of disorders due to a mitochondrial respiratory chain deficiency. They may depend on mitochondrial genome (mtDNA-related disorders) as well as on a nuclear genome defect (nDNA-related disorders). mtDNA-related disorders encompass an increasing number of clinical pictures associated with more than 250 different provisional or confirmed pathogenic changes in mtD...

Most of the living organisms derive their energy requirements from ingested food material through controlled metabolic reactions. Prokaryotes like bacteria obtain the ATP, the energy subunit from series of enzymatic reactions which occur in the cytosol [1]. In contrast to prokaryotes, eukaryotes have evolved a highly specialized double membrane organelles i.e., mitochondria encompassing electro...